The Jessee family had a fantastic summer.  I can’t count how many times I said to Matt something along the lines of, “Can you believe that last year at this time we were in the hospital completely overwhelmed with fear and now we’re doing [insert some completely normal family activity here]?”  It was really wonderful.  We took June to the pool almost every week, we went on walks, we had play dates, and I even took her with me to run errands at the store. Life was good.  The highlight of our summer was our two-week road trip to DC, the Outer Banks of NC, and then Richmond, VA.  Matt and I met in DC, and we still have lots of friends living there, one of whom was getting married, so we decided to make a family vacation of it.  Before the wedding we saw some friends and after the wedding we went to the beach in North Carolina.  On our way home we stopped in Richmond for Matt’s grandfather’s memorial service.  It was so much fun.  June had a lot of first experiences.  First road trip, first taste of BBQ, first trip to the beach, first time touching the ocean with her itty bitty toes, she even got her first kiss from an adorable little boy named Baker (our friends’ son).  They were smitten. The best part was being together as a family without the constant reminder that something is wrong. While I am grateful for all the early intervention support June receives, it was nice to get away from the therapists and the doctors.

When we returned home, it was back to reality with appointments and therapy. While June is making many amazing developments and is so, so happy, she is now having some issues with her kidneys. The kidney problem came to our attention when June was weaning off ACTH.  While on ACTH her neurologists instructed me to check June’s urine for glucose several times a week, as spilling glucose into urine is a possible side effect.  The urine strips they gave me had other things to test for besides glucose including protein, microscopic blood, leukocytes, etc.  I, of course, tested for everything and noticed June had protein and microscopic blood in her urine that wasn’t there before. I didn’t know what that meant but I alerted her pediatrician, and he told me the sample was contaminated, and that I was doing something wrong.  I told him I didn’t know how I could continuously contaminate a sterile urine bag with protein or blood, but he assumed it was nothing to worry about. Finally, and I think only because I kept bothering him, he put me in touch with a pediatric nephrologist.  [As a side note, we’ve since switched pediatricians because I want to have a partner in June’s health care who trusts my judgment. This is the second doctor that has disregarded my concerns and turned out to be wrong. I find that disconcerting. Why are these doctors assuming I’m just an anxious mom? And even if I was, isn’t it better to investigate further to be certain? I keep asking questions until I understand, but what if I hadn’t? It makes me angry that I had to do so much for the doctors to take me seriously, but I digress.]

After meeting with the nephrologist we learned that June has proteinuria, which means she has excess protein in her urine.  Nephrologists quantify the amount of protein in a urine sample through a protein/creatine ratio. The normal amount of protein/creatinine ratio in our urine is less than .2.  June’s was 11. Yeah, that is high. We’ve monitored it every two weeks over the course of the summer and it has since gone down, but it remains very high signifying a serious problem with her kidneys.

Our kidneys have many functions, but one of them is to serve as a filter or a sort of pasta strainer, if you will.  When kidneys function properly, they keep the nutrients in that our body needs (the pasta, or the protein, in June’s case) and they filter out the waste (the water, or substances we do not need).  At this point in time, going back to the pasta strainer analogy, it appears that June’s holes in her pasta strainer (kidneys) are too large and pasta (protein) is falling through the holes with the waste. Over time this can cause lots of problems to other areas of June’s body because she will loose valuable nutrients that her cells need to work properly.  The next step is to biopsy June’s kidneys to hopefully figure out why they aren’t working correctly.  This is challenging to do on a baby, but modern techniques generally allow doctors to perform the biopsy safely and effectively.  Unfortunately, though, a biopsy may not provide an exact answer to the question of what is causing the proteinuria, in which case, I am not sure what we will do.

What does this all mean and how does it relate to June’s overall health?  No one knows.  Is this a coincidence that June has hearing loss, brain issues, and now kidney disease? Probably not.  What is linking the three and are there other organs in her body that are affected? No one can say for certain. These are the types of questions Matt and I ask all of June’s doctors and no one — not a single doctor, can answer them.  One possible answer to all of June’s symptoms is something called mitochondrial disorder, which means there is some error in June’s mitochondrial DNA (mtDNA) or within the mitochondria in the nuclear DNA (nDNA) that probably took place right after conception.  To put it simply, the “bad” DNA likely replicated and is in various cells in her body causing problems in different organs.  Doctors start to look to mitochondrial disease once someone has 3 or more organs with unexplained problems. This is not an easy condition to diagnose because we can’t test every cell in June’s body. For example, if we biopsy one cell in June’s kidney, it may be fine but the cell next to it that we didn’t biopsy may have problems.  It’s like searching for a needle in a haystack. In short, we can get a positive result, but we could never get a negative one.  I suppose it doesn’t matter though because unfortunately there is no cure for this condition and we can only treat the symptoms as they come assuming the symptoms are treatable.  We don’t know for sure that she has this, but it is a scary possibility.  I’m hoping there is another answer to all of her health issues, one that is solved easily.

In other health updates, June’s brain is processing sound since her spasms stopped.  Before, noise wasn’t getting past the 8^th nerve in her brain and now it is.  She does have moderate hearing loss in her right ear and mild in her left.  It’s possible June could still have some processing problems in conjunction with the hearing loss, meaning she hears loud sounds, but she isn’t quite sure what to do with all of it or some of it.  I like to think of it as someone speaking to me in another language.  I hear the person talking, but I don’t understand what he is saying and talking louder isn’t going to make me understand.  So we have to help June learn to interpret what she hears. We are also using hearing aids and they appear to help her, but we are keeping a close eye on it at the same time.  In terms of her vision, the speed at which images go from her eyes to her brain is now within the normal range.  When June had IS, it was not.  However, the image is reduced. I am not sure what that means functionally and we are waiting on an explanation from the doctor, but I imagine he is going to tell me “I don’t know.”

I usually like to end my posts with something positive or some kind of encouragement for myself to hold onto, but I’m having a difficult time doing that right now. The truth is I’m tired.  I’m tired of hearing “we don’t know” from doctors. I’m tired of all the appointments.  I’m tired of all the tests and procedures.  I’m just plain exhausted in every sense of the word.  In my last post I said anything from here on out we can handle, and I know we can. I just don’t want to.  I want to go back to those two weeks on vacation where Matt, June, and I were a “normal” family, doing “normal” family things, without weekly trips to the children’s hospital. At the same time, I want someone to tell me what is causing all of June’s problems. I want a medicine or a procedure that will make her organs work properly. At the very least it would be nice to have a diagnosis that could tell us what the prognosis is.  I want Dr. House and his team of doctors to sit around a whiteboard, crossing ideas off and eventually diagnosing and curing our Juney, but I can’t find him.  He only exists on TV and that just stinks.  The main thing that keeps me going is June’s smile and her sweet giggles.  At this point she isn’t in pain and I just hope and pray that June’s kidney problem is something that can be treated.  Thanks for reading.  Getting my thoughts out on this blog helps me process all the moving parts in a way that I can understand and it helps having your support. As always, we will write an update when we know more.